A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4786



Internal ID15549530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:34655988..34684200hg38UCSC Ensembl
Outerchr5:34656093..34684305hg19UCSC Ensembl
Outerchr5:34691850..34720062hg18UCSC Ensembl
Outerchr5:34691850..34720062hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3811223
hg1911223
hg1811223
hg1711223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5992
SamplesNA12156
Known GenesRAI14
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv4786
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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